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Aliases for CRLF1 Gene

Aliases for CRLF1 Gene

  • Cytokine Receptor-Like Factor 1 2 3
  • Cytokine-Like Factor 1 3 4
  • Zcytor5 3 4
  • CLF-1 3 4
  • CISS 3 6
  • Cytokine Type 1 Receptor CRLP-1 3
  • Cold-Induced Sweating Syndrome 2
  • Class I Cytokine Receptor 3
  • CISS1 3
  • CLF 3
  • NR6 3

External Ids for CRLF1 Gene

Previous GeneCards Identifiers for CRLF1 Gene

  • GC19M019198
  • GC19M019096
  • GC19M018549
  • GC19M018566
  • GC19M018567
  • GC19M018704
  • GC19M018266

Summaries for CRLF1 Gene

Entrez Gene Summary for CRLF1 Gene

  • This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]

GeneCards Summary for CRLF1 Gene

CRLF1 (Cytokine Receptor-Like Factor 1) is a Protein Coding gene. Diseases associated with CRLF1 include cold-induced sweating syndrome 1 and cold-induced sweating syndrome including crisponi syndrome. Among its related pathways are Translation Insulin regulation of translation. GO annotations related to this gene include protein heterodimerization activity and cytokine activity. An important paralog of this gene is GHR.

UniProtKB/Swiss-Prot for CRLF1 Gene

  • Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in nervous system development

Gene Wiki entry for CRLF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRLF1 Gene

Genomics for CRLF1 Gene

Regulatory Elements for CRLF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CRLF1 Gene

Start:
18,572,220 bp from pter
End:
18,607,741 bp from pter
Size:
35,522 bases
Orientation:
Minus strand

Genomic View for CRLF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CRLF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRLF1 Gene

Proteins for CRLF1 Gene

  • Protein details for CRLF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75462-CRLF1_HUMAN
    Recommended name:
    Cytokine receptor-like factor 1
    Protein Accession:
    O75462
    Secondary Accessions:
    • Q9UHH5

    Protein attributes for CRLF1 Gene

    Size:
    422 amino acids
    Molecular mass:
    46302 Da
    Quaternary structure:
    • Forms covalently linked di- and tetramers. Forms a heteromeric complex with cardiotrophin-like cytokine (CLC); the CRLF1/CLC complex is a ligand for the ciliary neurotrophic factor receptor (CNTFR).

neXtProt entry for CRLF1 Gene

Proteomics data for CRLF1 Gene at MOPED

Post-translational modifications for CRLF1 Gene

  • Glycosylation at Asn92, Asn104, Asn140, Asn168, Asn292, and Asn382
  • Modification sites at PhosphoSitePlus

Other Protein References for CRLF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRLF1 Gene

Domains for CRLF1 Gene

Gene Families for CRLF1 Gene

HGNC:
  • FN3 :Fibronectin type III domain containing

Protein Domains for CRLF1 Gene

Suggested Antigen Peptide Sequences for CRLF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75462

UniProtKB/Swiss-Prot:

CRLF1_HUMAN :
  • O75462
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding
  • Contains 2 fibronectin type-III domains.
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
Family:
  • Belongs to the type I cytokine receptor family. Type 3 subfamily.
genes like me logo Genes that share domains with CRLF1: view

Function for CRLF1 Gene

Molecular function for CRLF1 Gene

UniProtKB/Swiss-Prot Function: Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in nervous system development
UniProtKB/Swiss-Prot Induction: Up-regulated in fibroblast primary cell cultures under stimulation by IFNG/IFN-gamma, TNF and IL6/interleukin-6.

Gene Ontology (GO) - Molecular Function for CRLF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 9686600
GO:0005125 contributes_to cytokine activity IDA 10966616
GO:0005127 contributes_to ciliary neurotrophic factor receptor binding IDA 10966616
GO:0005515 protein binding IPI 10966616
GO:0019955 cytokine binding IPI 15034937
genes like me logo Genes that share ontologies with CRLF1: view
genes like me logo Genes that share phenotypes with CRLF1: view

Animal Models for CRLF1 Gene

MGI Knock Outs for CRLF1:

Animal Model Products

CRISPR Products

miRNA for CRLF1 Gene

miRTarBase miRNAs that target CRLF1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRLF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CRLF1 Gene

Localization for CRLF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRLF1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRLF1 Gene COMPARTMENTS Subcellular localization image for CRLF1 gene
Compartment Confidence
extracellular 5
cytosol 4
plasma membrane 4
golgi apparatus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CRLF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 9686600
GO:0097058 CRLF-CLCF1 complex IDA 10966616
genes like me logo Genes that share ontologies with CRLF1: view

Pathways for CRLF1 Gene

genes like me logo Genes that share pathways with CRLF1: view

Pathways by source for CRLF1 Gene

1 GeneGo (Thomson Reuters) pathway for CRLF1 Gene

Interacting Proteins for CRLF1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000376188%0d%0a9606.ENSP00000309338%0d%0a9606.ENSP00000242338%0d%0a
Selected Interacting proteins: ENSP00000376188 O75462-CRLF1_HUMAN for CRLF1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for CRLF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA --
GO:0008284 positive regulation of cell proliferation IDA 10966616
GO:0042517 positive regulation of tyrosine phosphorylation of Stat3 protein IDA 10966616
GO:0043524 negative regulation of neuron apoptotic process IDA 10966616
GO:2000672 negative regulation of motor neuron apoptotic process IEA --
genes like me logo Genes that share ontologies with CRLF1: view

Transcripts for CRLF1 Gene

Unigene Clusters for CRLF1 Gene

Cytokine receptor-like factor 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRLF1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRLF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9
SP1:
SP2:
SP3: -
SP4:

Relevant External Links for CRLF1 Gene

GeneLoc Exon Structure for
CRLF1
ECgene alternative splicing isoforms for
CRLF1

Expression for CRLF1 Gene

mRNA expression in normal human tissues for CRLF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRLF1 Gene

This gene is overexpressed in Artery - Tibial (10.0) and Artery - Coronary (6.6).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for CRLF1 Gene

SOURCE GeneReport for Unigene cluster for CRLF1 Gene Hs.114948

mRNA Expression by UniProt/SwissProt for CRLF1 Gene

O75462-CRLF1_HUMAN
Tissue specificity: Highest levels of expression observed in spleen, thymus, lymph node, appendix, bone marrow, stomach, placenta, heart, thyroid and ovary. Strongly expressed also in fetal lung.
genes like me logo Genes that share expressions with CRLF1: view

In Situ Assay Products

Orthologs for CRLF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRLF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRLF1 35
  • 98.67 (n)
  • 99.15 (a)
CRLF1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRLF1 35
  • 92.34 (n)
  • 97.65 (a)
CRLF1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRLF1 35
  • 91.19 (n)
  • 97.91 (a)
CRLF1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crlf1 35
  • 87.89 (n)
  • 95.25 (a)
Crlf1 16
Crlf1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRLF1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRLF1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crlf1 35
  • 87.81 (n)
  • 95.01 (a)
chicken
(Gallus gallus)
Aves CRLF1 35
  • 79.31 (n)
  • 79.95 (a)
CRLF1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crlf1 35
  • 70.16 (n)
  • 78.49 (a)
zebrafish
(Danio rerio)
Actinopterygii crlf1a 35
  • 69.13 (n)
  • 70.41 (a)
crlf1a 36
  • 67 (a)
OneToMany
crlf1b 36
  • 61 (a)
OneToMany
Species with no ortholog for CRLF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRLF1 Gene

ENSEMBL:
Gene Tree for CRLF1 (if available)
TreeFam:
Gene Tree for CRLF1 (if available)

Paralogs for CRLF1 Gene

Paralogs for CRLF1 Gene

Selected SIMAP similar genes for CRLF1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CRLF1: view

Variants for CRLF1 Gene

Sequence variations from dbSNP and Humsavar for CRLF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs368930 -- 18,600,750(+) tgcct(C/T)agcct intron-variant, upstream-variant-2KB
rs447887 -- 18,600,739(+) agtga(G/T)cctct intron-variant, upstream-variant-2KB
rs1004084 -- 18,598,177(+) CCGAG(G/T)GGGTG intron-variant, synonymous-codon, reference
rs1061404 -- 18,593,380(+) CCACT(A/G)GGGTG utr-variant-3-prime, downstream-variant-500B
rs1802330 -- 18,593,526(-) GGAGA(A/C)GCAGA utr-variant-3-prime, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CRLF1 Gene

Variant ID Type Subtype PubMed ID
nsv911281 CNV Loss 21882294
nsv911282 CNV Loss 21882294
nsv833776 CNV Loss 17160897
dgv3784n71 CNV Loss 21882294
dgv3785n71 CNV Loss 21882294
nsv911288 CNV Loss 21882294
nsv911290 CNV Loss 21882294
esv24367 CNV Loss 19812545

Relevant External Links for CRLF1 Gene

HapMap Linkage Disequilibrium report
CRLF1
Human Gene Mutation Database (HGMD)
CRLF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRLF1 Gene

Disorders for CRLF1 Gene

(1) OMIM Diseases for CRLF1 Gene (604237)

UniProtKB/Swiss-Prot

CRLF1_HUMAN
  • Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]: An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. {ECO:0000269 PubMed:12509788, ECO:0000269 PubMed:16952376, ECO:0000269 PubMed:17436251, ECO:0000269 PubMed:17436252, ECO:0000269 PubMed:21326283, ECO:0000269 PubMed:23026229, ECO:0000269 PubMed:24488861}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for CRLF1 Gene

Disease -log(P) Hits PubMed IDs
cold-induced sweating syndrome 98.6 7
crisponi syndrome 97.5 6
leukemia 13.8 1

Relevant External Links for CRLF1

Genetic Association Database (GAD)
CRLF1
genes like me logo Genes that share disorders with CRLF1: view

Publications for CRLF1 Gene

  1. Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family. (PMID: 9686600) Elson G.C.A. … Gauchat J.-F. (J. Immunol. 1998) 2 3 4 23
  2. Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. (PMID: 12509788) Knappskog P.M. … Boman H. (Am. J. Hum. Genet. 2003) 3 4 23
  3. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (PMID: 17436251) Dagoneau N. … Cormier-Daire V. (Am. J. Hum. Genet. 2007) 3 4 23
  4. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. (PMID: 17436252) Crisponi L. … Rutsch F. (Am. J. Hum. Genet. 2007) 3 4 23
  5. Cytokine receptor-like factor 1 is highly expressed in damaged human knee osteoarthritic cartilage and involved in osteoarthritis downstream of TGF-beta. (PMID: 19921088) Tsuritani K. … Yoneda Y. (Calcif. Tissue Int. 2010) 3 23

Products for CRLF1 Gene

Sources for CRLF1 Gene

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